Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Journal of Medical Genetics

Volumn 51, Issue 12, 2014, Pages 824-833

  Böhm, Johann ^a,b,c,d,e   Chevessier, Frédéric ^f   Koch, Catherine ^a,b,c,d,e   Peche, G Arielle ^a,b,c,d,e   Mora, Marina ^g   Morandi, Lucia ^g   Pasanisi, Barbara ^g   Moroni, Isabella ^g   Tasca, Giorgio ^h   Fattori, Fabiana ^h   Ricci, Enzo ⁱ   Pénisson Besnier, Isabelle ^j   Nadaj Pakleza, Aleksandra ^j   Fardeau, Michel ^k   Joshi, Pushpa Raj ^l   Deschauer, Marcus ^l   Romero, Norma Beatriz ^k   Eymard, Bruno ^k   Laporte, Jocelyn ^a,b,c,d,e  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e l'alimentation et l'Environnement   (France)

^f UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ CATHOLIC UNIVERSITY   (Italy)

^j ANGERS UNIVERSITY HOSPITAL   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CREATINE KINASE; NICOTINAMIDE ADENINE DINUCLEOTIDE; STROMAL INTERACTION MOLECULE 1; TETRAZOLIUM REDUCTASE;

ADOLESCENT; ADULT; ADULT ONSET MYALGIA; AGED; ANIMAL CELL; ARTICLE; CALCIUM BINDING; CALCIUM HOMEOSTASIS; CELL SIZE; CLINICAL ARTICLE; ENDOPLASMIC RETICULUM; FAMILY; FEMALE; GENE; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTERNALIZATION; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUSCLE WEAKNESS; MYALGIA; MYOBLAST; MYOPATHY; NONHUMAN; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; TAM GENE; TISSUE SECTION; TUBULAR AGGREGATE MYOPATHY; ULTRASTRUCTURE;

EID: 84964292674     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102623     Document Type: Article

References (27)

1. Li Z, Lu J, Xu P, Xie X, Chen L, Xu T. Mapping the interacting domains of STIM1 and Orai1 in Ca2+ release-activated Ca2+ channel activation. J Biol Chem 2007;282:29448-56.
2. Muik M, Fahrner M, Schindl R, Stathopulos P, Frischauf I, Derler I, Plenk P, Lackner B, Groschner K, Ikura M, Romanin C. STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation. EMBO J 2011;30:1678-89.
3. Stathopulos PB, Zheng L, Li GY, Plevin MJ, Ikura M. Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry. Cell 2008;135:110-22.
4. Stathopulos PB, Li GY, Plevin MJ, Ames JB, Ikura M. Stored Ca2+ depletion-induced oligomerization of stromal interaction molecule 1 (STIM1) via the EF-SAM region: an initiation mechanism for capacitive Ca2+ entry. J Biol Chem 2006;281:35855-62.
5. Zhang SL, Yu Y, Roos J, Kozak JA, Deerinck TJ, Ellisman MH, Stauderman KA, Cahalan MD. STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane. Nature 2005;437:902-5.
6. Xu P, Lu J, Li Z, Yu X, Chen L, Xu T. Aggregation of STIM1 underneath the plasma membrane induces clustering of Orai1. Biochem Biophys Res Commun 2006;350:969-76.
7. Wu MM, Buchanan J, Luik RM, Lewis RS. Ca2+ store depletion causes STIM1 to accumulate in ER regions closely associated with the plasma membrane. J Cell Biol 2006;174:803-13.
8. Luik RM, Wu MM, Buchanan J, Lewis RS. The elementary unit of store-operated Ca2+ entry: local activation of CRAC channels by STIM1 at ER-plasma membrane junctions. J Cell Biol 2006;174:815-25.
9. Liou J, Kim ML, Heo WD, Jones JT, Myers JW, Ferrell JE Jr, Meyer T. STIM is a Ca2+ sensor essential for Ca2+-store-depletion-triggered Ca2+ influx. Curr Biol 2005;15:1235-41.
10. Liou J, Fivaz M, Inoue T, Meyer T. Live-cell imaging reveals sequential oligomerization and local plasma membrane targeting of stromal interaction molecule 1 after Ca2+ store depletion. Proc Natl Acad Sci USA 2007;104:9301-6.
11. Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson B, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel L, Casanova JL. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010;207:2307-12.
12. Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, Maul-Pavicic A, Bass T, Vraetz T, Strahm B, Ankermann T, Benson M, Caliebe A, Fölster-Holst R, Kaiser P, Thimme R, Schamel WW, Schwarz K, Feske S, Ehl S. Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol 2012;188:1523-33.
13. Picard C, McCarl CA, Papolos A, Khalil S, Luthy K, Hivroz C, LeDeist F, Rieux-Laucat F, Rechavi G, Rao A, Fischer A, Feske S. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med 2009;360:1971-80.
14. Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014.
15. Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci USA 2014.
16. Bohm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantai D, Laforet P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 2013;92:271-8.
17. Hedberg C, Niceta M, Fattori F, Lindvall B, Ciolfi A, D'Amico A, Tasca G, Petrini S, Tulinius M, Tartaglia M, Oldfors A, Bertini E. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. J Neurol 2014.
18. Chevessier F, Bauche-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantai D, Verdiere-Sahuque M. The origin of tubular aggregates in human myopathies. J Pathol 2005;207:313-23.
19. Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124(Pt 6):1091-9.
20. Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012;91:193-201.
21. Guergueltcheva V, Muller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 2011.
22. Boncompagni S, Protasi F, Franzini-Armstrong C. Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement. Age (Dordr) 2012;34:27-41.
23. Engel WK, Bishop DW, Cunningham GG. Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res 1970;31:507-25.
24. Muller HD, Vielhaber S, Brunn A, Schroder JM. Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. Acta Neuropathol 2001;102:27-35.
25. Schiaffino S. Tubular aggregates in skeletal muscle: Just a special type of protein aggregates? Neuromuscul Disord 2012;22:199-207.
26. Mercer JC, Dehaven WI, Smyth JT, Wedel B, Boyles RR, Bird GS, Putney JW Jr. Large store-operated calcium selective currents due to co-expression of Orai1 or Orai2 with the intracellular calcium sensor, Stim1. J Biol Chem 2006;281:24979-90.
27. Huang GN, Zeng W, Kim JY, Yuan JP, Han L, Muallem S, Worley PF. STIM1 carboxyl-terminus activates native SOC, I(crac) and TRPC1 channels. Nat Cell Biol 2006;8:1003-10.